title: Wilson's disease: Experience at a tertiary care hospital.
abstract: Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism. Data regarding WD is not available from Pakistan. A cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, and all patients admitted with primary and secondary diagnosis of Wilson's disease were added. A total of 47 patients were seen; 68% (n = 32) were male. The mean age was 26.6 ± 9.97 years. Most of the patients presented with hepatic, (n = 22, 46.8%), neurological, (n = 17, 36.2%) and psychiatric (n = 8, 17%) symptoms. Mean ceruloplasmin level was 0.17 ± 0.13 g/dl; it was < 0.25 g/dl in 39 (86.6%) patients. Serum copper (Cu) was reduced in 32 (68.1%) patients and 24-hr-urinary Cu was raised in 22 (47.6%) patients. Slit lamp examination for Kayser-Fleischer (KF) rings was done on 15 (31.9%) patients and 9 (60%) of them had KF rings. Mean serum aspartate transaminase (AST) / alanine transaminases (ALT) ratio was 1.92 and median alkaline phosphatase / total bilirubin ratio was 79.30 (IQR 35.05; 166.50).
authors.affiliation: Department of Medicine, The Aga Khan University, Karachi. om.parkash@aku.edu
authors.forename: Om
authors.initials: O
authors.lastname: Parkash
authors.forename: Adil
authors.initials: A
authors.lastname: Ayub
authors.forename: Wasim
authors.initials: W
authors.lastname: Jafri
authors.forename: Syed Hasnain
authors.initials: SH
authors.lastname: Alishah
authors.forename: Saeed
authors.initials: S
authors.lastname: Hamid
mesh_terms: D000328:Adult; D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000097:blood / Q000378:metabolism* / Q000652:urine; D003430:Cross-Sectional Studies; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D010154:Pakistan / Q000453:epidemiology; D015995:Prevalence; D063128:Tertiary Health Care
chemical_list: D003300:Copper; D002570:Ceruloplasmin